A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618917



Internal ID15818721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:64886307..64901580hg38UCSC Ensembl
Outerchr14:65353025..65368298hg19UCSC Ensembl
Outerchr14:64422778..64438051hg18UCSC Ensembl
Outerchr14:64422778..64438051hg17UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg3815274
hg1915274
hg1815274
hg1715274
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510638
Supporting Variants
SamplesNA10860
Known Genes
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nssv618917
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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